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Recent progress in genetics of adolescent idiopathic scoliosis

Springer (Biomed Central Ltd.)
Publication Date
DOI: 10.1186/1748-7161-5-s1-o15
  • Oral Presentation
  • Biology
  • Medicine


Recent progress in genetics of adolescent idiopathic scoliosis ORAL PRESENTATION Open Access Recent progress in genetics of adolescent idiopathic scoliosis Mohamed Elbakry*, Maryam Taheri, Sadallah Bouhanik, Marie-Yvonne Akoume, Isabelle Turgeon, Anita Franco, Alain Moreau From 7th International Conference on Conservative Management of Spinal Deformities Montreal, Canada. 20-22 May 2010 Introduction Scoliosis is a three-dimensional deformity of the spine with lateral curvature combined with vertebral rotation. Occurrence of a melatonin signaling dysfunction in cells derived from patients with adolescent idiopathic scolio- sis (AIS) was reported by Moreau et al. It was shown that serine phosphorylation of Gi proteins α-subu- nits was involved although the source of such aberrant phosphorylation remains unknown. The goal of this research project is to identify the kinase(s) and/or phos- phatase(s) involved in the melatonin signaling defect observed in AIS. We have used a candidate gene driven approach and found the Tyrosine Phosphatase x (PTPx) and a second molecule termed HSJ-1, which controls the activity of this tyrosine phosphatase. Materials and methods Primary osteoblast cell cultures derived from AIS patients and control subjects biopsies were used to determine the expression profiles of the PTPx and HSJ- 1 genes by RT-PCR and at the protein level by immuno- precipitation followed by Western blot. In parallel, cDNA and genomic DNA coding for PTPx or HSJ-1 were sequenced to search for possible mutations asso- ciated with AIS. PTPx knockout mouse was used as bipedal animal model and primary cell cultures derived from the spine of these mice were used to assess Gi protein signaling through a functional assay termed Cel- lular Dielectric Spectroscopy (CDS). Results and discussion Bipedal PTPx knockout mice develop more often scolio- sis (80%) in number and severity than control C57Bl/6 mice (45%). Interestingly, functional analysis of osteo- blasts derived from PTPx KO

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